MAU2

Summary

MAU2 (MAU2 sister chromatid cohesion factor, HGNC:29140) is a protein-coding gene on chromosome 19p13.11, encoding MAU2 chromatid cohesion factor homolog (Q9Y6X3). Plays an important role in the loading of the cohesin complex on to DNA. It is a selective cancer dependency (DepMap: 55.5% of cell lines).

Enables cohesin loader activity. Involved in maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex.

Source: NCBI Gene 23383 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 27
• Clinical variants (ClinVar): 69 total — 4 pathogenic, 7 likely-pathogenic
• Cancer dependency (DepMap): dependent in 55.5% of screened cell lines
• MANE Select transcript: NM_015329

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29140
Approved symbol	MAU2
Name	MAU2 sister chromatid cohesion factor
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	MGC75361, mau-2, MAU2L, SCC4
Ensembl gene	ENSG00000129933
Ensembl biotype	protein_coding
OMIM	614560
Entrez	23383

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 10 retained_intron, 5 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000262815, ENST00000262816, ENST00000499453, ENST00000585823, ENST00000586189, ENST00000587362, ENST00000587638, ENST00000587709, ENST00000587938, ENST00000589637, ENST00000589947, ENST00000590837, ENST00000590882, ENST00000592069, ENST00000609060, ENST00000609122, ENST00000943175, ENST00000943176

RefSeq mRNA: 1 — MANE Select: NM_015329 NM_015329

CCDS: CCDS32969

Canonical transcript exons

ENST00000262815 — 19 exons

Exon	Start	End
ENSE00000866071	19355708	19358754
ENSE00001688034	19337170	19337265
ENSE00001709793	19338845	19338939
ENSE00001740013	19340846	19340873
ENSE00001941056	19320829	19321135
ENSE00003467225	19349325	19349436
ENSE00003477891	19342535	19342681
ENSE00003494723	19335718	19335735
ENSE00003550138	19344849	19344926
ENSE00003564957	19347280	19347366
ENSE00003571711	19345304	19345369
ENSE00003578993	19354355	19354445
ENSE00003586598	19349155	19349232
ENSE00003594056	19348889	19348938
ENSE00003605593	19336122	19336187
ENSE00003614334	19355264	19355391
ENSE00003635184	19341252	19341407
ENSE00003643131	19342776	19342866
ENSE00003649836	19343837	19343940

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 96.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.4983 / max 217.0966, expressed in 1812 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174780	29.4983	1812

Top tissues by expression

298 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lateral globus pallidus	UBERON:0002476	96.23	gold quality
right uterine tube	UBERON:0001302	95.96	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.69	gold quality
cerebellar hemisphere	UBERON:0002245	95.49	gold quality
penis	UBERON:0000989	95.46	gold quality
cerebellar cortex	UBERON:0002129	95.36	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.25	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.21	gold quality
left ovary	UBERON:0002119	95.11	gold quality
subthalamic nucleus	UBERON:0001906	95.04	gold quality
right ovary	UBERON:0002118	94.73	gold quality
tibia	UBERON:0000979	94.52	gold quality
epithelium of nasopharynx	UBERON:0001951	94.49	gold quality
sperm	CL:0000019	94.47	gold quality
inferior vagus X ganglion	UBERON:0005363	94.46	gold quality
sural nerve	UBERON:0015488	94.43	gold quality
gastrocnemius	UBERON:0001388	94.32	gold quality
granulocyte	CL:0000094	94.30	gold quality
mucosa of stomach	UBERON:0001199	94.19	gold quality
cerebellum	UBERON:0002037	94.17	gold quality
muscle of leg	UBERON:0001383	94.09	gold quality
body of uterus	UBERON:0009853	94.09	gold quality
body of tongue	UBERON:0011876	94.07	gold quality
endocervix	UBERON:0000458	94.01	gold quality
tibial nerve	UBERON:0001323	94.00	gold quality
substantia nigra pars compacta	UBERON:0001965	93.99	gold quality
apex of heart	UBERON:0002098	93.98	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.89	gold quality
pituitary gland	UBERON:0000007	93.85	gold quality
right lobe of thyroid gland	UBERON:0001119	93.78	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.03
E-GEOD-124858	no	91.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

124 targeting MAU2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-548AC	99.84	70.77	4351

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 55.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• Human MAU-2 family member has weak similarity to yeast Scc4 and is associated with Scc2, bound to chromatin from telophase until prophase, and required for association of cohesin with chromatin during interphase (PMID:16682347)
• specific novel mutations at the N-terminus of the MAU2-interacting domain of NIBPL result in markedly reduced MAU2 binding. (PMID:21934712)
• Here, the authors show that, in human cells, cohesin loading onto chromosomes during early S phase requires the replicative helicase MCM2-7 and the kinase DDK. Cohesin and its loader SCC2/4 (NIPBL/MAU2 in humans) associate with DDK and phosphorylated MCM2-7. (PMID:29611806)
• MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome. (PMID:32433956)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mau2	ENSDARG00000042056
mus_musculus	Mau2	ENSMUSG00000031858
rattus_norvegicus	Mau2	ENSRNOG00000020526
drosophila_melanogaster	Mau2	FBGN0038300
caenorhabditis_elegans	mau-2	WBGENE00003136

Protein

Protein identifiers

MAU2 chromatid cohesion factor homolog — Q9Y6X3 (reviewed: Q9Y6X3)

Alternative names: Cohesin loading complex subunit SCC4 homolog

All UniProt accessions (3): Q9Y6X3, V9GYS3, V9GZ52

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin. Plays a role in sister chromatid cohesion and normal progression through prometaphase.

Subunit / interactions. Heterodimerizes with MAU2/SCC2 to form the cohesin loading complex. The NIPBL-MAU2 heterodimer interacts with the SMC1A-SMC3 heterodimer and with the cohesin complex composed of SMC1A, SMC3, RAD21 and STAG1. Interacts with PRR12.

Subcellular location. Nucleus. Nucleoplasm. Chromosome.

Similarity. Belongs to the SCC4/mau-2 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y6X3-1	1	yes
Q9Y6X3-2	2
Q9Y6X3-3	3

RefSeq proteins (1): NP_056144* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019440	MAU2	Family
IPR019734	TPR_rpt	Repeat

Pfam: PF10345

UniProt features (11 total): repeat 4, splice variant 4, chain 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6X3-F1	91.90	0.82

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-2470946	Cohesin Loading onto Chromatin
R-HSA-1640170	Cell Cycle
R-HSA-68884	Mitotic Telophase/Cytokinesis
R-HSA-68886	M Phase
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 162 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GGGCATT_MIR365, GOBP_SISTER_CHROMATID_COHESION, MODULE_206, SCHLOSSER_SERUM_RESPONSE_AUGMENTED_BY_MYC, GOBP_MITOTIC_SISTER_CHROMATID_COHESION, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, GOCC_NUCLEAR_BODY, GOBP_CELL_DIVISION, chr19p13, GOBP_CELL_CYCLE_PROCESS, GOBP_CHROMOSOME_SEGREGATION, GOBP_MAINTENANCE_OF_SISTER_CHROMATID_COHESION, TERAO_AOX4_TARGETS_SKIN_DN

GO Biological Process (4): chromosome segregation (GO:0007059), mitotic sister chromatid cohesion (GO:0007064), maintenance of mitotic sister chromatid cohesion (GO:0034088), cell division (GO:0051301)

GO Molecular Function (2): cohesin loader activity (GO:0061775), protein binding (GO:0005515)

GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear body (GO:0016604), SMC loading complex (GO:0032116), Scc2-Scc4 cohesin loading complex (GO:0090694), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Mitotic Telophase/Cytokinesis	1
M Phase	1
Cell Cycle, Mitotic	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular membraneless organelle	2
cell cycle process	1
sister chromatid cohesion	1
mitotic sister chromatid cohesion	1
maintenance of sister chromatid cohesion	1
cellular process	1
catalytic activity, acting on DNA	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
nucleoplasm	1
nuclear protein-containing complex	1
SMC loading complex	1

Protein interactions and networks

STRING

1852 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAU2	NIPBL	Q6KC79	998
MAU2	PDS5A	Q29RF7	975
MAU2	WAPL	Q7Z5K2	962
MAU2	CDCA5	Q96FF9	918
MAU2	SMC3	Q9UQE7	883
MAU2	ESCO1	Q5FWF5	868
MAU2	PDS5B	Q9NTI5	831
MAU2	ESCO2	Q56NI9	825
MAU2	STAG1	Q8WVM7	823
MAU2	RAD21	O60216	795
MAU2	ESPL1	Q14674	726
MAU2	DNAJB7	Q7Z6W7	716
MAU2	REC8	O95072	704
MAU2	SMC1A	Q14683	678
MAU2	MTRNR2L4	P0CJ71	600

IntAct

30 interactions, top by confidence:

A	B	Type	Score
MAU2	NIPBL	psi-mi:“MI:0915”(physical association)	0.720
NIPBL	MAU2	psi-mi:“MI:0915”(physical association)	0.720
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
MAU2	MOB3C	psi-mi:“MI:0915”(physical association)	0.560
MAU2	CBX5	psi-mi:“MI:0914”(association)	0.530
SMC1A	PDS5B	psi-mi:“MI:0914”(association)	0.530
CLTC	MAU2	psi-mi:“MI:0407”(direct interaction)	0.440
Myh10	LMO7	psi-mi:“MI:0914”(association)	0.350
DNAJC7	HSPA8	psi-mi:“MI:0914”(association)	0.350
CFAP298	PLXNB1	psi-mi:“MI:0914”(association)	0.350
NOTCH1	CNOT1	psi-mi:“MI:0914”(association)	0.350
ARFGAP1	POTEF	psi-mi:“MI:0914”(association)	0.350
CBX5	ZNF568	psi-mi:“MI:0914”(association)	0.350
CBX1	EXOC5	psi-mi:“MI:0914”(association)	0.350
H2BC21	SMCHD1	psi-mi:“MI:0914”(association)	0.350
SSRP1	DDX39A	psi-mi:“MI:0914”(association)	0.350
TOP1	DDX39A	psi-mi:“MI:0914”(association)	0.350
FAXC	METTL15	psi-mi:“MI:0914”(association)	0.350
ATXN7L1	USP27X	psi-mi:“MI:0914”(association)	0.350
GPSM3	PHF1	psi-mi:“MI:0914”(association)	0.350
MAU2	BCHE	psi-mi:“MI:0914”(association)	0.350
NMB	HSPA5	psi-mi:“MI:0914”(association)	0.350
TP53BP1	PSMD14	psi-mi:“MI:2364”(proximity)	0.270
BRCA1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (164): MAU2 (Co-fractionation), SRCAP (Affinity Capture-MS), CBX1 (Affinity Capture-MS), MAU2 (Affinity Capture-MS), MAU2 (Affinity Capture-MS), CBX5 (Affinity Capture-MS), NIPBL (Affinity Capture-MS), MAU2 (Affinity Capture-MS), MAU2 (Affinity Capture-Western), MAU2 (Affinity Capture-MS), MOB3C (Affinity Capture-MS), MAU2 (Affinity Capture-MS), MAU2 (Proximity Label-MS), MAU2 (Proximity Label-MS), MAU2 (Affinity Capture-MS)

ESM2 similar proteins: A5PLN9, A7MB76, B1H1Z8, B4ZIX8, D3K5L7, E2R222, F1LSG8, O54865, O89050, O94973, P16068, P17427, P18484, P20595, P97834, Q02153, Q08211, Q0VCK5, Q0VFT9, Q12800, Q13042, Q13098, Q15645, Q28141, Q3MHJ2, Q3TIR1, Q3UA06, Q4ZHR9, Q5F450, Q5M887, Q5R874, Q5RB35, Q5RCG0, Q5XHZ9, Q5ZHN3, Q6GPR5, Q6GR10, Q6NRT5, Q6NZH6, Q6PBY7

Diamond homologs: A7SUU7, B0WYS3, B1H1Z8, B3M1B7, B3P0R4, B4GF49, B4HE12, B4JHK2, B4K4X6, B4M4L4, B4NKT1, B4PS83, B4QZ45, B4ZIX8, Q16NZ8, Q296H8, Q9D2X5, Q9VFC0, Q9Y6X3, Q9FGN7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

69 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	7
Uncertain significance	39
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
4291147	NM_015329.4(MAU2):c.1600G>C (p.Asp534His)	Pathogenic
4291151	NM_015329.4(MAU2):c.160_168del (p.Val54_Pro56del)	Pathogenic
4845233	MAU2, 21-BP DEL, NT927	Pathogenic
4845234	MAU2, ARG176TRP	Pathogenic
4291139	NM_015329.4(MAU2):c.1612C>T (p.Gln538Ter)	Likely pathogenic
4291142	NM_015329.4(MAU2):c.403_415del (p.Gln135fs)	Likely pathogenic
4291143	NM_015329.4(MAU2):c.1133_1141delinsATT (p.Ala378_Gln380delinsAsp)	Likely pathogenic
4291145	NM_015329.4(MAU2):c.1142T>C (p.Leu381Pro)	Likely pathogenic
4291146	NM_015329.4(MAU2):c.1582C>T (p.Leu528Phe)	Likely pathogenic
4291148	NM_015329.4(MAU2):c.1181G>A (p.Cys394Tyr)	Likely pathogenic
4291150	NM_015329.4(MAU2):c.724dup (p.Asp242fs)	Likely pathogenic

SpliceAI

3563 predictions. Top by Δscore:

Variant	Effect	Δscore
19:19325089:GT:G	donor_gain	1.0000
19:19337168:A:AG	acceptor_gain	1.0000
19:19337169:G:GC	acceptor_loss	1.0000
19:19337169:G:GG	acceptor_gain	1.0000
19:19337169:GA:G	acceptor_gain	1.0000
19:19337169:GAAT:G	acceptor_gain	1.0000
19:19337169:GAATT:G	acceptor_gain	1.0000
19:19337261:TCGCT:T	donor_gain	1.0000
19:19337262:CGCTG:C	donor_loss	1.0000
19:19337263:GCT:G	donor_gain	1.0000
19:19337263:GCTGT:G	donor_loss	1.0000
19:19337265:TGT:T	donor_loss	1.0000
19:19337266:G:GG	donor_gain	1.0000
19:19337266:G:T	donor_loss	1.0000
19:19337267:TGAG:T	donor_loss	1.0000
19:19337268:GAGT:G	donor_loss	1.0000
19:19337269:AGTA:A	donor_loss	1.0000
19:19338839:TTTTA:T	acceptor_loss	1.0000
19:19338840:TTTA:T	acceptor_loss	1.0000
19:19338843:A:AG	acceptor_gain	1.0000
19:19338843:AG:A	acceptor_loss	1.0000
19:19338844:G:GA	acceptor_gain	1.0000
19:19338844:GC:G	acceptor_gain	1.0000
19:19338844:GCA:G	acceptor_gain	1.0000
19:19341247:CCCA:C	acceptor_loss	1.0000
19:19341248:CCA:C	acceptor_loss	1.0000
19:19341249:CAGCT:C	acceptor_loss	1.0000
19:19341250:A:AG	acceptor_gain	1.0000
19:19341250:A:AT	acceptor_loss	1.0000
19:19341250:AGCT:A	acceptor_gain	1.0000

AlphaMissense

4011 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:19320957:C:A	A33D	1.000
19:19320969:G:C	R37P	1.000
19:19320999:G:A	C47Y	1.000
19:19321000:C:G	C47W	1.000
19:19321007:T:C	C50R	1.000
19:19321009:C:G	C50W	1.000
19:19321011:T:C	L51P	1.000
19:19321053:C:A	A65D	1.000
19:19321065:T:C	L69P	1.000
19:19321071:T:C	L71P	1.000
19:19321073:G:C	G72R	1.000
19:19321074:G:A	G72D	1.000
19:19321083:T:C	L75P	1.000
19:19321125:T:C	L89P	1.000
19:19336152:G:C	A109P	1.000
19:19337198:T:C	L130P	1.000
19:19337206:G:C	A133P	1.000
19:19337236:T:A	W143R	1.000
19:19337236:T:C	W143R	1.000
19:19337238:G:C	W143C	1.000
19:19337238:G:T	W143C	1.000
19:19337239:C:G	H144D	1.000
19:19337242:T:C	C145R	1.000
19:19337246:G:C	R146P	1.000
19:19337249:T:C	L147P	1.000
19:19337252:T:C	L148P	1.000
19:19337255:T:C	F149S	1.000
19:19337261:T:C	L151P	1.000
19:19337264:C:A	A152D	1.000
19:19338849:T:C	L154P	1.000

dbSNP variants (sampled 300 via entrez): RS1000004924 (19:19324658 TCTC>T), RS1000135091 (19:19353151 T>A), RS1000229601 (19:19346569 G>T), RS1000264451 (19:19335184 T>G), RS1000380059 (19:19335862 G>C), RS1000487825 (19:19352929 G>A), RS1000528572 (19:19330725 A>T), RS1000577387 (19:19341518 C>T), RS1000634080 (19:19325321 G>A), RS1000652092 (19:19351940 C>A), RS1000917401 (19:19320275 G>A), RS1000927826 (19:19356926 G>A,T), RS1000941559 (19:19331017 C>T), RS1001002080 (19:19345810 AG>A), RS1001065386 (19:19331492 A>T)

Disease associations

OMIM: gene MIM:614560 | disease phenotypes: MIM:122470

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	Autosomal dominant

Mondo (3): autism spectrum disorder (MONDO:0005258), Cornelia de Lange syndrome (MONDO:0016033), neurodevelopmental disorder (MONDO:0700092)

Orphanet (2): Cornelia de Lange syndrome (Orphanet:199), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST002149_11	Schizophrenia	3.000000e-09
GCST002539_89	Schizophrenia	4.000000e-10
GCST003301_4	Triglycerides	3.000000e-18
GCST003486_10	Response to fenofibrate (LDL cholesterol levels)	2.000000e-08
GCST004607_18	Plateletcrit	4.000000e-14
GCST004618_46	White blood cell count (basophil)	1.000000e-09
GCST004764_1	LDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes	9.000000e-08
GCST006613_62	Triglycerides	4.000000e-53
GCST006803_88	Schizophrenia	7.000000e-12
GCST007201_261	Schizophrenia	4.000000e-08
GCST007201_283	Schizophrenia	4.000000e-09
GCST007294_16	Body fat distribution (trunk fat ratio)	2.000000e-07
GCST007294_35	Body fat distribution (trunk fat ratio)	1.000000e-10
GCST007295_166	Body fat distribution (leg fat ratio)	2.000000e-11
GCST007295_22	Body fat distribution (leg fat ratio)	3.000000e-07
GCST008103_10	Bipolar disorder	1.000000e-09
GCST008115_2	Bipolar I disorder	3.000000e-09
GCST008116_4	Bipolar II disorder	4.000000e-06
GCST008747_134	Estimated glomerular filtration rate	6.000000e-08
GCST009356_11	Nonsyndromic cleft palate	3.000000e-09
GCST010002_52	Refractive error	4.000000e-29
GCST010703_335	Brain morphology (MOSTest)	3.000000e-10
GCST011051_5	Postprandial triglyceride levels	8.000000e-09
GCST011052_4	Fasting triglyceride levels	2.000000e-10
GCST012020_57	Serum metabolite levels	1.000000e-10
GCST90002404_573	Red cell distribution width	3.000000e-37
GCST90016666_9	Liver volume	3.000000e-11

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0007804	LDL cholesterol change measurement
EFO:0007985	platelet crit
EFO:0005090	basophil count
EFO:0004341	body fat distribution
EFO:0009963	bipolar I disorder
EFO:0009964	bipolar II disorder
EFO:0004346	neuroimaging measurement
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
trichostatin A	decreases expression	1
arsenite	decreases reaction, affects binding	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
abrine	increases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants	increases abundance, affects expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Phthalic Acids	decreases methylation	1
Selenium	decreases expression	1
Smoke	decreases expression	1
Vitamin E	decreases expression	1

Clinical trials (associated diseases)

498 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder